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Volumn 18, Issue 4, 1998, Pages 369-372

Prenatal diagnosis of Smith-Lemli-Opitz syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL;

EID: 0031969342     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199804)18:4<369::AID-PD373>3.0.CO;2-1     Document Type: Short Survey
Times cited : (17)

References (16)
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    • Abuelo, D.N., Tint, G.S., Batta, A., et al. (1995). Prenatal detection of the cholesterol synthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of the amniotic fluid sterols, Am. J. Med. Genet., 56, 281-285.
    • (1995) Am. J. Med. Genet. , vol.56 , pp. 281-285
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  • 2
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    • Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome
    • Canick, J.A., Abuelo, D., Bradley, L.A., Tint, G.S. (1997). Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome, Prenat. Diagn., 17, 187-189.
    • (1997) Prenat. Diagn. , vol.17 , pp. 187-189
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  • 3
    • 0031050244 scopus 로고    scopus 로고
    • Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
    • Elias, E.R., Irons, M.B., Hurley, A.D., Tint, G.S., Salen, G. (1997). Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS), Am. J. Med. Genet., 68, 305-310.
    • (1997) Am. J. Med. Genet. , vol.68 , pp. 305-310
    • Elias, E.R.1    Irons, M.B.2    Hurley, A.D.3    Tint, G.S.4    Salen, G.5
  • 4
    • 0029098207 scopus 로고
    • Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes
    • Honda, A., Tint, G.S., Salen, G., Batta, A.K., Chen, T.S., Shefer, S. (1995). Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes, J. Lipid. Rsh., 36, 1595-1601.
    • (1995) J. Lipid. Rsh. , vol.36 , pp. 1595-1601
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  • 5
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
    • Irons, M., Elias, E.R., Salen, G., Tint, G.S., Batta, A.K. (1993). Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome, Lancet, 341, 1414.
    • (1993) Lancet , vol.341 , pp. 1414
    • Irons, M.1    Elias, E.R.2    Salen, G.3    Tint, G.S.4    Batta, A.K.5
  • 6
    • 0028295496 scopus 로고
    • Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in 4 patients and treatment in 1 patient
    • Irons, M., Elias, E., Tint, G.S., Salen, G., Frieden, R., Buie, T.M., et al. (1994). Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in 4 patients and treatment in 1 patient, Am. J. Med. Genet., 50, 347-352.
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  • 8
    • 0029022844 scopus 로고
    • Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
    • Kelley, R.I. (1995). Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts, Clin. Chim. Acta., 236, 45-58.
    • (1995) Clin. Chim. Acta. , vol.236 , pp. 45-58
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  • 9
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  • 10
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    • Mills, K., Mandel, H., Montemagno, R., Soothill, P., Gershoni-Baruch, R., Clayton, P.T. (1996). First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency), Pediatr. Res., 39, 816-819.
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  • 12
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    • Shefer, S., Salen, G., Batta, A.K., Honda, A., Tint, G.S., Irons, M., Elias, E.R., Chen, T.C., Holick, M.F. (1995). Markedly inhibited 7-dehydrocholesterol-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes, J. Clin. Invest., 96, 1779-1785.
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  • 13
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  • 15
  • 16
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.